COPA, COPI coat complex subunit alpha, 1314

N. diseases: 37; N. variants: 6
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs794727993
rs794727993 		1.000 1 160323439 missense variant C/T snv 7.0E-06
CUI: C4225334
Disease: AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE 		0.800 1.000 1 2015 2015
dbSNP: rs794727994
rs794727994 		1.000 1 160314104 missense variant T/C snv
CUI: C4225334
Disease: AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE 		0.800 0
dbSNP: rs794727995
rs794727995 		1.000 1 160314111 missense variant C/T snv
CUI: C4225334
Disease: AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE 		0.800 0
dbSNP: rs864309710
rs864309710 		1.000 1 160323447 missense variant C/A snv
CUI: C4225334
Disease: AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE 		0.800 0
dbSNP: rs1557868211
rs1557868211 		1.000 1 160314117 missense variant C/G snv
CUI: C4225334
Disease: AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE 		0.700 0
dbSNP: rs10752637
rs10752637 		1.000 0.080 1 160342475 intron variant T/A;C;G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2009 2009